title: First reported case of compound heterozygosity for HbA2-Yialousa (HBD: c.82 G>C) and HbA2-Wrens (HBD: c.295 G>A) in Oman.
abstract: We report the presence of two different dglobin gene mutations causing d?-thalassemia in association with homozygous (-a3.7/-a3.7) genotype for the first time in an Omani child with a low hemoglobin A2 (HbA2) of 0.8 %. Direct nucleotide sequencing revealed compound heterozygote mutations in the patient’s d-globin genes: HbA2-Yialousa (HBD: c.82G[C) and HbA2- Wrens (HBD: c.295G[A). In Oman, where a and b-thalassemia and HbS are prevalent, an awareness of the presence of different d-globin gene mutations is important as complex interactions between these hemoglobinopathies can lead to the misdiagnosis of b-thalassemia carriers.
authors.affiliation: Department of Haematology, Sultan Qaboos University Hospital, P O Box 33, 123 Muscat, Oman.
authors.forename: Shoaib
authors.initials: S
authors.lastname: Al Zadjali
authors.forename: Wafa
authors.initials: W
authors.lastname: Bashir
authors.forename: David
authors.initials: D
authors.lastname: Gravell
authors.forename: Arwa Z
authors.initials: AZ
authors.lastname: Al Riyami
authors.forename: Yasser
authors.initials: Y
authors.lastname: Wali
authors.forename: Shahina
authors.initials: S
authors.lastname: Daar
mesh_terms: D002675:Child, Preschool; D004252:DNA Mutational Analysis; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D009850:Oman; D055538:delta-Thalassemia / Q000235:genetics*
chemical_list: D006455:Hemoglobins, Abnormal